Varaico: Literature-Extracted Genetic Variants

Gene:APOB
Variant:p.V2384fs
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APOB

NM_000384.3:p.V2384fs

Associated Papers

Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.

Wakabayashi T et al.

Journal of Atherosclerosis and Thrombosis, 2024

Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.

Dron JS et al.

Jama Cardiology, 2023

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Elbitar S et al.

Scientific Reports, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."